[Type 2A multiple endocrine neoplasia with cutaneous lichen amyloidosis].
نویسندگان
چکیده
منابع مشابه
Cutaneous lichen amyloidosis associated with multiple endocrine neoplasia type 2A.
We have previously described a kindred with hereditary medullary thyroid carcinoma and pheochromocytoma (multiple endocrine neoplasia type 2A [MEN 2A]) with localized pruritic cutaneous manifestations present only in affected members. Although the initial skin biopsies reported did not show amyloidosis, subsequent skin biopsy results reported here have demonstrated amyloid which stained for ker...
متن کاملRET mutation screening in familial cutaneous lichen amyloidosis and in skin amyloidosis associated with multiple endocrine neoplasia.
In several families, multiple endocrine neoplasia type 2A (MEN 2A) has been found in association with cutaneous lichen amyloidosis. It has been debated, however, whether the skin amyloidosis found in MEN 2A families, localized exclusively in the interscapular area, represents the same anomaly as that found in autosomal dominant familial cutaneous lichen amyloidosis, which is more generalized. W...
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The RET proto-oncogene has been identified as the multiple endocrine neoplasia type 2 disease gene. An association between specific RET mutation and disease phenotype has been reported. We present the phenotype-genotype of 12 Greek families with multiple endocrine neoplasia type 2A (MEN 2A) or familial medullary thyroid carcinoma (FMTC). Seventy members were studied and DNA analysis for RET mut...
متن کاملRET Proto-Oncogene
Hereditary medullary thyroid carcinoma (MTC) is caused by autosomal dominant gain-of-function mutations in the RET proto-oncogene. Associations between specific RET mutations (genotype) and the aggressiveness of MTC and presence or absence of other endocrine neoplasms (phenotype) are well documented. Mutations in six exons (10, 11, 13, 14, 15, and 16) located in either cysteine-rich or tyrosine...
متن کاملGenotype-phenotype correlation in multiple endocrine neoplasia type 2
Multiple endocrine neoplasia type 2 is an autosomal-dominant hereditary cancer syndrome caused by missense gain-of-function mutations of the rearranged during transfection proto-oncogene, which encodes the receptor tyrosine kinase, on chromosome 10. It has a strong penetrance of medullary thyroid carcinomas and can be associated with bilateral pheochromocytoma and primary hyperparathyroidism. M...
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عنوان ژورنال:
- Schweizerische medizinische Wochenschrift
دوره 130 22 شماره
صفحات -
تاریخ انتشار 2000